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The rapid emergence of molecular diagnostic platforms has revolutionized the diagnostic approaches in
hematology laboratory. Fluorescence in-situ hybridization, polymerase chain reaction and DNA sequencing are
common techniques used in routine clinical laboratories for the diagnosis of hematological diseases. Different
molecular techniques are indicated in different situations. This paper describes the utility of common molecular
techniques. Fluorescence in-situ hybridization is specific for detection of chromosomal abnormalities using fluorescent
labeled targeting probe. Polymerase chain reaction amplifies target DNA and reverse transcription polymerase chain
reaction amplifies target RNA for the analysis of gene and its expression level. Real-time polymerase chain reaction
is highly sensitive for detection of minimal residual disease in hemic malignancies. Gap-polymerase chain reaction
is often employed for diagnosis of large deletions such as in alpha thalassemia. Allele-specific polymerase chain
reaction is commonly used for single nucleotide polymorphism detection which is common in beta thalassemia,
myeloproliferative neoplasm and acute leukemia.
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